Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family.

Journal: International Journal Of Cardiology
Published:
Abstract

Long-QT syndrome is a congenital cardiac disease resulting in ventricular arrhythmias and sudden death. Genetic mutations in two protein ion-channel genes, KCNQ1 and KCNH2. The mutations position in these genes provides additional information about the evaluation of the risk-stratification. In a Spanish family in whom previous repetitive syncope episodes, sudden death and pathological prolongation of the QT interval were documented, a novel heterozygous mutation in the KCNH2 gene (A1218>G) was identified. This mutation loading to amino acid substitution H420R in the S1 transmembrane domain of KCNH2. The new A1218>G mutation in the KCNH2 gene detected in this Spanish family causes arrhythmia manifestation in the carriers.

Authors
José Zamorano León, Sergio Alonso Orgaz, Javier Moreno, Rafael Cinza, Maria García Torrent, Nicasio Pérez Castellano, Julián Pérez Villacastín, Carlos Macaya, Antonio López Farré
Relevant Conditions

Long QT Syndrome